Assuntos
Cefaleia/líquido cefalorraquidiano , Herpesvirus Humano 6 , Linfocitose/líquido cefalorraquidiano , Doenças do Sistema Nervoso/líquido cefalorraquidiano , Infecções por Roseolovirus/líquido cefalorraquidiano , Adolescente , Feminino , Cefaleia/complicações , Cefaleia/diagnóstico , Humanos , Linfocitose/complicações , Linfocitose/diagnóstico , Doenças do Sistema Nervoso/complicações , Doenças do Sistema Nervoso/diagnóstico , Infecções por Roseolovirus/complicações , Infecções por Roseolovirus/diagnóstico , SíndromeRESUMO
BACKGROUND: Far from being uniform, Huntington's disease (HD)'s phenotype encompasses a large variety of motor and non-motor symptoms which occur in various combinations in individual patients. AIM: To describe an unusual association between restless legs syndrome (RLS) and HD. METHODS AND RESULTS: We report a patient with an atypical presentation of genetically demonstrated HD, who developed typical RLS a few years prior to and during the course of HD. Common causes of RLS were excluded and the polysomnography confirmed frequent and severe periodic limb movements during sleep and while awake. CONCLUSIONS: We propose RLS as an uncommon but early feature of HD in some patients, and suggest adding HD to the already long list of RLS secondary to neurodegenerative conditions.
Assuntos
Doença de Huntington/complicações , Síndrome das Pernas Inquietas/complicações , Humanos , Doença de Huntington/diagnóstico , Masculino , Pessoa de Meia-Idade , Polissonografia , Síndrome das Pernas Inquietas/tratamento farmacológicoRESUMO
The clinical expression of dopa-responsive dystonia (DRD) was found to be different in a pair of affected monozygotic twins. An earlier onset was associated with a more disabling course of disease. Whereas monozygosity was genetically proven, the search for pathogenic mutations in the GTP-cyclohydrolase-1 gene was negative. The contribution of environmental factors appeared minimal. Intrafamilial variability of DRD phenotype may be related to yet unknown non-Mendelian epigenetic or proteomic factors.
Assuntos
Di-Hidroxifenilalanina/uso terapêutico , Doenças em Gêmeos , Distúrbios Distônicos/genética , GTP Cicloidrolase/deficiência , Gêmeos Monozigóticos , Adulto , Benserazida/uso terapêutico , Biopterinas/líquido cefalorraquidiano , Biopterinas/deficiência , Pé Torto Equinovaro/genética , Progressão da Doença , Dopaminérgicos/uso terapêutico , Distúrbios Distônicos/líquido cefalorraquidiano , Distúrbios Distônicos/tratamento farmacológico , Distúrbios Distônicos/enzimologia , Feminino , GTP Cicloidrolase/genética , Humanos , Neopterina/líquido cefalorraquidiano , Neopterina/deficiência , FenótipoAssuntos
Encéfalo/patologia , Síndrome de Creutzfeldt-Jakob/complicações , Síndrome de Creutzfeldt-Jakob/patologia , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/patologia , Disartria/etiologia , Disartria/patologia , Paralisia Pseudobulbar/complicações , Paralisia Pseudobulbar/etiologia , Idoso , Encéfalo/fisiopatologia , Síndrome de Creutzfeldt-Jakob/fisiopatologia , Transtornos de Deglutição/fisiopatologia , Disartria/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Paralisia Pseudobulbar/patologia , Paralisia Pseudobulbar/fisiopatologiaAssuntos
Corticosteroides/efeitos adversos , Cuidados Críticos , Bloqueadores Neuromusculares/efeitos adversos , Quadriplegia/induzido quimicamente , Doença Aguda , Feminino , Humanos , Pessoa de Meia-Idade , Debilidade Muscular/induzido quimicamente , Músculo Esquelético/efeitos dos fármacos , Músculo Esquelético/fisiopatologiaRESUMO
OBJECTIVES: To study the clinical spectrum of an acute severe encephalopathy occurring in 2 patients after recovery from falciparum malaria infection and to compare it with the reported clinical features of the postmalaria neurological syndrome. DESIGN: Case report. SETTING: Tertiary care hospital. PATIENTS: Two patients presented with acute onset of fluctuating motor aphasia, severe generalized myoclonus, and postural tremor. Additional signs were cerebellar ataxia, and in 1 patient, generalized epileptic seizures. Magnetic resonance imaging of the brain revealed patchy white matter lesions in 1 patient. Clinically, the patients' conditions continued to worsen until corticosteroids were introduced, the use of which induced a rapid, albeit incomplete, recovery. CONCLUSIONS: We describe a new, severe variant of the still poorly defined postmalaria neurological syndrome. We propose a preliminary classification of this syndrome, according to its clinical characteristics, as follows: a mild or localized form, characterized by isolated cerebellar ataxia or postural tremor; a diffuse, but relatively mild encephalopathic form, characterized by acute confusion or epileptic seizures; and a severe, corticosteroid-responsive encephalopathy that is characterized by motor aphasia, generalized myoclonus, postural tremor, and cerebellar ataxia.
Assuntos
Afasia/etiologia , Malária Cerebral/complicações , Mioclonia/etiologia , Tremor/etiologia , Corticosteroides/administração & dosagem , Adulto , Feminino , Humanos , Malária Cerebral/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , PosturaAssuntos
Epilepsia/diagnóstico , Síncope/diagnóstico , Adulto , Diagnóstico Diferencial , Humanos , MasculinoRESUMO
Three adult siblings had atypical progressive spinal muscular atrophy of the limb-girdle type, predominantly sensory polyneuropathy and cerebellar ataxia. Hexosaminidase A and B activity was profoundly decreased in serum, leukocytes and cultured fibroblasts. GM2-gangliosidosis, variant O (Sandhoff disease) was diagnosed. Mechano-allodynia was the presenting symptom in two of the patients. After 50 years of disease evolution, the patients led an independent life and were intellectually normal. The literature on the adult form of GM2-gangliosidosis is reviewed.
Assuntos
Doença de Sandhoff/diagnóstico , Idoso , Encéfalo/patologia , Feminino , Hexosaminidase A , Humanos , Imageamento por Ressonância Magnética , Masculino , Microscopia Eletrônica , Pessoa de Meia-Idade , Condução Nervosa , Doença de Sandhoff/enzimologia , Pele/ultraestrutura , beta-N-Acetil-Hexosaminidases/sangueRESUMO
Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent mechanoallodynia was a manifesting symptom in two siblings. It is suggested that sensory deficits are due to a central-peripheral dying back axonopathy. The early and dominant sensory disturbances extend the clinical range of GM2-gangliosidosis.
Assuntos
Doença de Sandhoff/complicações , Doença de Sandhoff/genética , Transtornos de Sensação/complicações , beta-N-Acetil-Hexosaminidases/deficiência , Idoso , Doenças Cerebelares/complicações , Feminino , Hexosaminidase A , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doença dos Neurônios Motores/complicações , Doença de Sandhoff/enzimologia , Medula Espinal/patologia , Fatores de TempoAssuntos
Cegueira/etiologia , Porfirias/complicações , Doença Aguda , Adulto , Cegueira/patologia , Cegueira/fisiopatologia , Encéfalo/patologia , Artérias Cerebrais/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Óxido Nítrico/biossíntese , Porfirias/metabolismo , Porfirias/patologia , Vasoconstrição/fisiologiaAssuntos
Alcoolismo/complicações , Anestesia Geral , Enflurano/efeitos adversos , Etanol/efeitos adversos , Doença dos Neurônios Motores/induzido quimicamente , Propofol/efeitos adversos , Idoso , Feminino , Seguimentos , Humanos , Receptores de Glutamato/efeitos dos fármacos , Receptores de N-Metil-D-Aspartato/efeitos dos fármacosRESUMO
We report on a tourist returning from Thailand, who presented with classical dengue fever. While in Thailand a 36-year-old Swiss female laboratory assistant suddenly developed fever, devastating headache, retro-ocular pain, myalgia and arthralgia, photophobia, nausea and diarrhea. In addition she suffered from epistaxis, urogenital and skin bleeding, and a morbilliform exanthema. After her return to Switzerland we noted lymphadenopathy and splenomegaly, enanthema and laboratory findings of mild hepatitis, thrombocytopenia and leukopenia. The diagnosis of dengue virus infection was verified serologically. Apart from a long lasting convalescent asthenia we observed restitutio ad integrum within days under symptomatic therapy. Epidemiological clinical and diagnostic aspects of dengue virus infection are discussed.